Variant · Snv
FBN2 NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
CI-VAR-00020390Explore in graph →p.Thr1366=NM_001999.4:c.4098A>CClinVar 129041 rs28763943
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 129041 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Congenital contractural arachnodactyly; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome; Connective tissue disorder; Sarcoma; Acute myeloid leukemia | germline | 13 | Feb 02, 2026 | clinvar |